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Boli A-Z Alacrima, Achalasia, and Mental Retardation Syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Aneurysm Aniridia 1 Anorexia Nervosa 1 Aplastic Anemia Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Ataxia and Polyneuropathy, Adult-Onset Ataxia-Telangiectasia Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome Autosomal Recessive Disease Autosomal Recessive Primary Microcephaly Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Cerebritis Cleft Lip Congenital Nervous System Abnormality Corneal Dystrophy, Meesmann Craniosynostosis Dermatitis Dwarfism Familial Thoracic Aortic Aneurysm and Dissection Fanconi Anemia, Complementation Group a Fanconi Anemia, Complementation Group E Genitourinary Tract Anomalies Hepatitis Holoprosencephaly Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Intracranial Aneurysm Isolated Growth Hormone Deficiency, Type Ia Lig4 Syndrome Malignant Hypertension Microcephalic Osteodysplastic Primordial Dwarfism, Type I Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Microcephaly Microcephaly 1, Primary, Autosomal Recessive Mirror Movements 1 Physical Disorder Polyarteritis Nodosa Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 Retinal Detachment Retinitis Ring Chromosome 4 Schizencephaly Seckel Syndrome 1 Seckel Syndrome 4 Seckel Syndrome 5 Semilobar Holoprosencephaly Serpin Peptidase Inhibitor, Clade a, Member 2, Pseudogene Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation Tetraamelia Syndrome, Autosomal Recessive Tetralogy of Fallot Three M Syndrome 1 Tricuspid Atresia